A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204855



Internal ID22353640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709904..67710016hg38UCSC Ensembl
chr1:68175587..68175699hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv260n152
Supporting Variantsnssv14372469, nssv14372468, nssv14372466, nssv14372467, nssv14372470, nssv14372465
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513
Known GenesGNG12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204855
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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